CSCSC2
MCID: SKN062
MIFTS: 26

Skin Creases, Congenital Symmetric Circumferential, 2 (CSCSC2)

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Skin Creases, Congenital Symmetric Circumferential, 2

MalaCards integrated aliases for Skin Creases, Congenital Symmetric Circumferential, 2:

Name: Skin Creases, Congenital Symmetric Circumferential, 2 57 72 29 6
Cscsc2 57 12 72
Symmetric Circumferential Skin Creases, Congenital, 2 57
Congenital Symmetric Circumferential Skin Creases 2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
spontaneous improvement or resolution of skin creases in childhood
based on report of 4 unrelated patients (last curated january 2016)


HPO:

31
skin creases, congenital symmetric circumferential, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Skin Creases, Congenital Symmetric Circumferential, 2

OMIM® : 57 Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610). (616734) (Updated 05-Apr-2021)

MalaCards based summary : Skin Creases, Congenital Symmetric Circumferential, 2, also known as cscsc2, is related to skin creases, congenital symmetric circumferential, 1. An important gene associated with Skin Creases, Congenital Symmetric Circumferential, 2 is MAPRE2 (Microtubule Associated Protein RP/EB Family Member 2). Affiliated tissues include skin, and related phenotypes are hypertelorism and pes planus

Disease Ontology : 12 A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has material basis in heterozygous mutation in MAPRE2 on chromosome 18q12.1-q12.2.

UniProtKB/Swiss-Prot : 72 Skin creases, congenital symmetric circumferential, 2: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.

Related Diseases for Skin Creases, Congenital Symmetric Circumferential, 2

Diseases in the Skin Creases, Congenital Symmetric Circumferential, 1 family:

Skin Creases, Congenital Symmetric Circumferential, 2

Diseases related to Skin Creases, Congenital Symmetric Circumferential, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 skin creases, congenital symmetric circumferential, 1 11.0

Symptoms & Phenotypes for Skin Creases, Congenital Symmetric Circumferential, 2

Human phenotypes related to Skin Creases, Congenital Symmetric Circumferential, 2:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 pes planus 31 occasional (7.5%) HP:0001763
3 microcephaly 31 occasional (7.5%) HP:0000252
4 short stature 31 occasional (7.5%) HP:0004322
5 microdontia 31 occasional (7.5%) HP:0000691
6 wide intermamillary distance 31 occasional (7.5%) HP:0006610
7 pectus excavatum 31 occasional (7.5%) HP:0000767
8 blepharophimosis 31 occasional (7.5%) HP:0000581
9 tapered finger 31 occasional (7.5%) HP:0001182
10 short palm 31 occasional (7.5%) HP:0004279
11 intellectual disability 31 HP:0001249
12 short neck 31 HP:0000470
13 depressed nasal bridge 31 HP:0005280
14 carious teeth 31 HP:0000670
15 delayed speech and language development 31 HP:0000750
16 microtia 31 HP:0008551
17 cleft palate 31 HP:0000175
18 flat face 31 HP:0012368
19 cryptorchidism 31 HP:0000028
20 micrognathia 31 HP:0000347
21 low-set ears 31 HP:0000369
22 broad neck 31 HP:0000475
23 epicanthus 31 HP:0000286
24 motor delay 31 HP:0001270
25 downslanted palpebral fissures 31 HP:0000494
26 narrow mouth 31 HP:0000160
27 upslanted palpebral fissure 31 HP:0000582
28 microphthalmia 31 HP:0000568
29 hypospadias 31 HP:0000047
30 microcornea 31 HP:0000482
31 scrotal hypoplasia 31 HP:0000046
32 hypoplasia of the corpus callosum 31 HP:0002079
33 posteriorly rotated ears 31 HP:0000358
34 generalized hypotonia 31 HP:0001290
35 short palpebral fissure 31 HP:0012745
36 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck
circumferential skin folds of neck (in some patients)
wide neck

Head And Neck Face:
flat face
micrognathia

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
thick, overfolded helices
prominent earlobes
more
Head And Neck Eyes:
microphthalmia
microcornea
downslanting palpebral fissures
epicanthal folds
short palpebral fissures
more
Growth Height:
short stature (in some patients)

Skeletal Skull:
microcephaly (rare)

Skeletal Hands:
long fingers (in some patients)
fifth-finger clinodactyly (in some patients)
tapering fingers (in some patients)
short hands (in some patients)

Chest Breasts:
widely spaced nipples (in some patients)

Head And Neck Teeth:
absent maxillary incisors (rare)
small teeth (rare)
tooth decay

Genitourinary Ureters:
ureterocele, unilateral (rare)

Skin Nails Hair Skin Histology:
normal histology of affected skin

Head And Neck Mouth:
cleft palate
microstomia

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
motor delay
speech delay
hypotonia, mild
mental retardation (mild to moderate in heterozygotes, severe in homozygotes)
seizures (in homozygotes)
more
Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum

Head And Neck Head:
microcephaly (rare)

Head And Neck Nose:
broad depressed nasal bridge

Skin Nails Hair Skin:
circumferential skin creases on extremities
circumferential skin creases on neck (in some patients)

Skeletal Feet:
pes planus (in some patients)
cutaneous syndactyly between second and third toes (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (in some patients)

Skeletal:
diffuse osteopenia (rare)

Clinical features from OMIM®:

616734 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skin Creases, Congenital Symmetric Circumferential, 2

Search Clinical Trials , NIH Clinical Center for Skin Creases, Congenital Symmetric Circumferential, 2

Genetic Tests for Skin Creases, Congenital Symmetric Circumferential, 2

Genetic tests related to Skin Creases, Congenital Symmetric Circumferential, 2:

# Genetic test Affiliating Genes
1 Skin Creases, Congenital Symmetric Circumferential, 2 29 MAPRE2

Anatomical Context for Skin Creases, Congenital Symmetric Circumferential, 2

MalaCards organs/tissues related to Skin Creases, Congenital Symmetric Circumferential, 2:

40
Skin

Publications for Skin Creases, Congenital Symmetric Circumferential, 2

Articles related to Skin Creases, Congenital Symmetric Circumferential, 2:

# Title Authors PMID Year
1
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 6 57
26637975 2015
2
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". 6 57
21262397 2011
3
Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome? 6 57
19182162 2009
4
A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2. 61
31903734 2020

Variations for Skin Creases, Congenital Symmetric Circumferential, 2

ClinVar genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPRE2 NM_014268.4(MAPRE2):c.203A>G (p.Asn68Ser) SNV Pathogenic 218929 rs864309719 GRCh37: 18:32650239-32650239
GRCh38: 18:35070275-35070275
2 MAPRE2 NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) SNV Pathogenic 218930 rs864309720 GRCh37: 18:32681940-32681940
GRCh38: 18:35101976-35101976
3 MAPRE2 NM_014268.4(MAPRE2):c.260A>G (p.Tyr87Cys) SNV Pathogenic 218927 rs864309717 GRCh37: 18:32677419-32677419
GRCh38: 18:35097455-35097455
4 MAPRE2 NM_014268.4(MAPRE2):c.454C>T (p.Gln152Ter) SNV Pathogenic 218928 rs864309718 GRCh37: 18:32681967-32681967
GRCh38: 18:35102003-35102003
5 MAPRE2 NM_014268.4(MAPRE2):c.380G>A (p.Arg127Gln) SNV Likely pathogenic 633596 rs1603400699 GRCh37: 18:32677539-32677539
GRCh38: 18:35097575-35097575
6 MAPRE2 NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs) Deletion Likely pathogenic 633295 rs1568991852 GRCh37: 18:32650202-32650209
GRCh38: 18:35070238-35070245

UniProtKB/Swiss-Prot genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 2:

72
# Symbol AA change Variation ID SNP ID
1 MAPRE2 p.Asn68Ser VAR_076540 rs864309719
2 MAPRE2 p.Tyr87Cys VAR_076541 rs864309717
3 MAPRE2 p.Arg143Cys VAR_076542 rs864309720

Expression for Skin Creases, Congenital Symmetric Circumferential, 2

Search GEO for disease gene expression data for Skin Creases, Congenital Symmetric Circumferential, 2.

Pathways for Skin Creases, Congenital Symmetric Circumferential, 2

GO Terms for Skin Creases, Congenital Symmetric Circumferential, 2

Sources for Skin Creases, Congenital Symmetric Circumferential, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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